Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.

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Ataxias

10.1093/med/9780199937837.003.0014 ◽

2017 ◽

Author(s):

Vikram G. Shakkottai

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Friedreich Ataxia ◽

Specific Treatment ◽

Specific Gene ◽

Progressive Cerebellar Ataxia ◽

Cerebellar Ataxias ◽

Gene Defects ◽

Inherited Ataxias ◽

Autosomal Recessive Cerebellar Ataxias

Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ataxias are Friedreich ataxia and Ataxia telangiectasia. A recessive ataxia must be considered for any individual with progressive cerebellar ataxia with onset less than 30 years. The treatment is primarily supportive, but some recessive ataxias have specific treatment.

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Treatable Ataxia: a comprehensive case series study

10.22541/au.163898359.91065034/v1 ◽

2021 ◽

Author(s):

Mahmood reza Ashrafi ◽

Elham Pourbakhtyaran ◽

Mohammad Rohani ◽

Bita Shalbafan ◽

Ali Reza Tavasoli ◽

...

Keyword(s):

Early Detection ◽

Early Onset ◽

Autosomal Recessive ◽

Case Series ◽

Case Series Study ◽

Close Observation ◽

Cerebellar Ataxias ◽

Series Study ◽

Autosomal Recessive Cerebellar Ataxias

Autosomal recessive cerebellar ataxias are a group of heterogeneous early-onset progressive disorders that some of them are treatable. We performed 4-year-follow up for 25 patients that considered as treatable ataxia in the literature. According to our study, patients would benefit from early detection of treatable ataxia, close observation, and follow-up.

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Identifying Gene Mutations in Autosomal Recessive Cerebellar Ataxias and Extending the Mutational Spectrum in China

10.21203/rs.3.rs-577033/v1 ◽

2021 ◽

Author(s):

Xueping Chen ◽

Xiaoqin Yuan ◽

Qian-Qian Wei ◽

RuWei Ou ◽

Bei Cao ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Gene Mutations ◽

Autosomal Recessive Inheritance ◽

Chinese Patients ◽

Missense Mutations ◽

Genetic Characteristics ◽

Targeted Next Generation Sequencing ◽

Cerebellar Ataxias ◽

Autosomal Recessive Cerebellar Ataxias

Abstract Background: Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous, complex, disabling neurodegenerative diseases characterized by autosomal recessive inheritance and cerebellar ataxia. Numerous mutations are described in several populations. However, in China, few data are available concerning ARCA. In this study, we aimed to identify ARCA-associated ataxia by targeted next-generation sequencing or whole-exome sequencing in a Chinese cohort, trying to determine clinical and genetic characteristics of Chinese patients with ARCA.Results: We identified 15 different mutations in 7 unrelated patients, of which 12 were novel, including seven missense mutations, three frameshift mutations, two splicing mutations, two nonsense mutations, and one inframe deletion mutation. The most frequent gene was ATM (3 patients), followed by SACS (2 patients), SYNE1 (2 patients), and SETX (1 patient). Specifically, 1 patient harbored mutations in both ATM and SYNE1. The phenotype was mainly cerebellar ataxia in all these cases. However, peripheral neuropathy, dystonia, oculomotor abnormalities, pyramidal tract dysfunction, cognitive impairment, and epilepsy were also revealed. Patients who harbored different gene mutations showed mutational heterogeneity. Conclusions: Our results indicate that ARCA-associated gene mutations are uncommon with additional clinical features in the Chinese population, and advanced sequencing is required to aid the diagnosis of undetermined cerebellar ataxia in Chinese patients.

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Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.53.8.667 ◽

1990 ◽

Vol 53 (8) ◽

pp. 667-670 ◽

Cited By ~ 28

Author(s):

A Filla ◽

G De Michele ◽

F Cavalcanti ◽

A Perretti ◽

L Santoro ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Genetic Heterogeneity ◽

Early Onset ◽

Tendon Reflexes

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Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

Neuron ◽

10.1016/j.neuron.2019.01.049 ◽

2019 ◽

Vol 101 (4) ◽

pp. 560-583 ◽

Cited By ~ 21

Author(s):

Matthis Synofzik ◽

Hélène Puccio ◽

Fanny Mochel ◽

Ludger Schöls

Keyword(s):

Autosomal Recessive ◽

Cerebellar Ataxias ◽

Molecular Therapies ◽

Targeted Molecular Therapies ◽

Autosomal Recessive Cerebellar Ataxias ◽

The Way

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Autosomal recessive cerebellar ataxias

Cerebellar Disorders ◽

10.1017/cbo9780511750557.023 ◽

2010 ◽

pp. 189-228

Keyword(s):

Autosomal Recessive ◽

Cerebellar Ataxias ◽

Autosomal Recessive Cerebellar Ataxias

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Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20150119 ◽

2015 ◽

Vol 73 (10) ◽

pp. 823-827 ◽

Cited By ~ 2

Author(s):

Wladimir Bocca Vieira de Rezende Pinto ◽

José Luiz Pedroso ◽

Paulo Victor Sgobbi de Souza ◽

Marcus Vinícius Cristino de Albuquerque ◽

Orlando Graziani Povoas Barsottini

Keyword(s):

Cerebellar Ataxia ◽

Neurological Diseases ◽

Acute Onset ◽

Olivopontocerebellar Atrophy ◽

Progressive Ataxia ◽

Progressive Cerebellar Ataxia ◽

Cerebellar Ataxias ◽

Triggering Events ◽

Wide Group

Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. We evaluated patients with acquired non-progressive cerebellar ataxia that presented previous acute or subacute onset. Clinical and neuroimaging characterization of adult patients with acquired non-progressive ataxia were performed. Five patients were identified with the phenotype of acquired non-progressive ataxia. Most patients presented with a juvenile to adult-onset acute to subacute appendicular and truncal cerebellar ataxia with mild to moderate cerebellar or olivopontocerebellar atrophy. Establishing the etiology of the acute triggering events of such ataxias is complex. Non-progressive ataxia in adults must be distinguished from hereditary ataxias.

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